Gene Summary

Name:
DnaJ heat shock protein family (Hsp40) member C7
Synonyms:
2010004G07Rik,  mTpr2,  Ttc2,  2010003F24Rik,  mDj11

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased mean corpuscular hemoglobin Dnajc7tm1b(KOMP)Wtsi HOM   Early adult 5.65×10-07
decreased mean corpuscular volume Dnajc7tm1b(KOMP)Wtsi HOM   Early adult 1.63×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Lymph node  Section images heterozygote Ambiguous
Mammary gland  Section images heterozygote Not available
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vascular system  Section images heterozygote 100% (2 of 2)
White adipose tissue  Section images heterozygote 100% (2 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Oviduct N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (1 of 1)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (1 of 1)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 100% (1 of 1)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (1 of 1)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (1 of 1)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (1 of 1)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (1 of 1)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (1 of 1)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (1 of 1)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (1 of 1)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (1 of 1)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (1 of 1)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 1)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (1 of 1)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (1 of 1)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (1 of 1)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (1 of 1)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (1 of 1)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (1 of 1)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (1 of 1)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thalamus 0.0%
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Adult LacZ

LacZ Images Section

38 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Eye Morphology

Images Ophthalmoscopy

7 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Sleep Wake

Wake state (bmp file)

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Forepaw

9 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

6 Images

Electroretinography 2

Rod and cone PDF

4 Images

Human diseases caused by Dnajc7 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dnajc7 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Glycogen Storage Disease Vi
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... OMIM:232700
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis OMIM:615238
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Cirrhosis, Hypercholesterolemia, Hyp... OMIM:605814
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... OMIM:615703
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration ORPHA:209919
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatic failur... ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegaly, Hypertri... OMIM:612526
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Macrovesicular hepat... ORPHA:209902
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia OMIM:614164
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated circulating aspartat... OMIM:619662
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... OMIM:207750
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hyp... OMIM:603471
Hemochromatosis Type 4
Congenital hepatic fibrosis, Hepatic steatosis, Increased circulating ferritin concentration, Cir... ORPHA:139491
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Cirrhosis, Cholestasis, Hepatic failure, Hypoalbuminemia, Eleva... OMIM:617156
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hypertriglyc... OMIM:610717
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Hepatic steatosis, Elevated circulating creatine kinase... OMIM:615980
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Increased hepatic echogenicity, Hepatic fi... OMIM:278000
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration OMIM:603776
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Elevated hepat... OMIM:301045
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Gracile Syndrome
Decreased transferrin saturation, Elevated hepatic iron concentration, Cirrhosis, Hepatic steatos... ORPHA:53693
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Hyperbilirubinemia, Decreased liver function, Hepatic steatosis, Cholestasis, El... OMIM:614300
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Hepatic steatosis OMIM:617872
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Hyperalaninemia, Hepatic steatosis, Elevated circu... OMIM:619048
Hemochromatosis, Type 4
Hepatomegaly, Elevated transferrin saturation, Cirrhosis, Increased circulating ferritin concentr... OMIM:606069
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia ORPHA:280356
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase OMIM:617093
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom... OMIM:238600
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Combined Oxidative Phosphorylation Deficiency 52
Hyperamylasemia, Elevated circulating creatine kinase concentration, Pancreatitis, Hyperglycinemi... OMIM:619386
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... ORPHA:567983
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Hepatic steatosis ORPHA:79084
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Elevated circulating acylcarnitine concentration ORPHA:26792
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Hepatic steatos... OMIM:255120
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc... OMIM:618805
Citrullinemia Type Ii
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatoc... ORPHA:247585
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failure, Cholestasis... OMIM:618641
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatic steatosis ORPHA:79085
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatic steatosis, Abnormal circulating creatine kinase concentrat... ORPHA:369840
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Micronodular cirr... OMIM:251880
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Jau... ORPHA:247598
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... ORPHA:412
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulating c... ORPHA:370
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Adrenomyodystrophy
Hepatic steatosis OMIM:300270
Chylomicron Retention Disease
Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepatic steatosis, Steatorrhea, Ele... ORPHA:71
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Pancreatitis, Hepatic steatosis, Hypertriglyceridemia ORPHA:435651
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Pancreatitis, Hypertriglyceridemia OMIM:606721
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Hyperammonemia, Hepatic steatosis, Elevated hep... OMIM:212140
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level OMIM:102730
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Macrovesicular ... OMIM:600649
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Hepatic steatosis, Elevated circulating alanine aminotransferase c... OMIM:614582
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Elevated hepatic tr... OMIM:619013
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hyperuricemia, Cirrhosis, Hepatic steatosis, Hypertrigly... OMIM:604367
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Decreased plasma free carnitine, Elevated circulating creatine kinase concentration... ORPHA:228305
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple... OMIM:607765
Congenital Generalized Lipodystrophy
Hepatomegaly, Cirrhosis, Hepatic steatosis, Hypercholesterolemia, Hypertriglyceridemia, Increased... ORPHA:528
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia ORPHA:848
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Cog4-Cdg
Fatal liver failure in infancy, Cirrhosis, Hypercholesterolemia, Hepatosplenomegaly, Elevated hep... ORPHA:263501
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Elevated circulating creatine kinase concentrati... ORPHA:264580
Infantile Liver Failure Syndrome 1
Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failure, Hepatomegaly OMIM:615438
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Decreased plasma carnitine, Hepatic steatosis OMIM:201450
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypercholesterolemia, Hepatosplenomegaly, Increased level of gal... ORPHA:79237
Sitosterolemia 1
Elevated circulating sitosterol concentration, Splenomegaly, Abnormality of the liver, Hyperchole... OMIM:210250
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Macrovesicular hep... OMIM:256810
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia ORPHA:363400
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Immunodeficiency 47
Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Accessory... OMIM:300972
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hepatocellular necrosis, Elevated circulating creatine kinase concentration, Hypera... OMIM:201475
Wilson Disease
Hepatomegaly, Hepatitis, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acute hepat... ORPHA:905
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Hepatic steatos... ORPHA:435660
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Decreased liver... ORPHA:42
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulating creatine kinase co... ORPHA:79240
Porphyria Cutanea Tarda
Increased serum iron, Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepa... ORPHA:101330
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia... ORPHA:567548
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia OMIM:615381
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Combined Oxidative Phosphorylation Deficiency 12
Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis OMIM:614924
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Low plasma citrulline, Hepatic failure, Hepatic steatosis OMIM:261680
Familial Chylomicronemia Syndrome
Hyperlipidemia, Recurrent pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Acute pancreatitis... ORPHA:444490
Primary Lipodystrophy
Hyperlipidemia, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis ORPHA:90970
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Abnormal circulating acetylcarnitine concentration, Mildly elevated creatine ki... ORPHA:71212
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Hepatic steatosis ORPHA:70472
Autoimmune Hepatitis
Hepatocellular carcinoma, Fulminant hepatitis, Increased total bilirubin, Acute hepatitis, Spleno... ORPHA:2137
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Hyperuricemia, Hypertrigl... ORPHA:79083
Laron Syndrome
Hypercholesterolemia ORPHA:633
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Fulminant hepatic failure, Hepatic necrosis OMIM:231530
Interstitial Lung And Liver Disease
Hepatomegaly, Hepatic fibrosis, Hyperammonemia, Cirrhosis, Hepatic steatosis, Elevated circulatin... OMIM:615486
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis ORPHA:300536
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Pancreatitis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia ORPHA:2348
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Decreased HDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis, A... OMIM:151660
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated creatine kinase after exercise, Hyperammonemia, Hepatic steatosis, Acute hepatic failure... ORPHA:99901
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Microvesicular hepatic steatosis, Hyponatremia, Hepatic fibrosis, Fatal liver failu... ORPHA:275761
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Decreased serum zinc, Hepatic steatosis, Hepatosplenomegaly, Cholestasis, Hepat... ORPHA:541423
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Abdominal Obesity-Metabolic Syndrome 3
Hypercholesterolemia OMIM:615812
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, Hepatic steatos... OMIM:212138
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hepatic steatosis ORPHA:52430
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Hepatic... ORPHA:98907
Acquired Generalized Lipodystrophy
Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Hepatic steatosis, Acute pancr... ORPHA:79086
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Dpm1-Cdg
Hepatomegaly, Hepatic fibrosis, Elevated circulating creatine kinase concentration, Hepatic steat... ORPHA:79322
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, Elevated circula... OMIM:614921
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume ORPHA:2169
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Hyperlipidemia, Elevated ci... ORPHA:228308
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic steatosis, Elevated circulating glutaric acid concentration, Hepatic peripo... OMIM:231680
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Decreased HDL cholesterol concentration, Hyperuricemia, H... OMIM:203800
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperuricemia, Hyperalaninemia, Hepatic steatosis, Ele... ORPHA:348
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets OMIM:220111
Lysinuric Protein Intolerance
Hyperglycinemia, Hyperammonemia, Increased circulating ferritin concentration, Hepatosplenomegaly... ORPHA:470
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatic steatosis, Hepatomegaly OMIM:614922
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Hepatic calcification, Decreased plasma free carnitine, Elevated circulating long c... OMIM:608836
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Hyperalaninemia, Macrovesicular hepatic steatosis, Elevated hepatic transaminase ORPHA:298
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hepatic fibrosis, Hypocholesterolemia, Hepatic steatosis, Hypoalbuminemia, Elevated... OMIM:212065
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatomegaly, Macronodular cirrhosis, Splenomegaly, Cirrhosis, ... OMIM:619418
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Decreased LDL cholestero... ORPHA:14
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hyperammonemia, Acute hepatic steatosis OMIM:210200
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hepatic steatosis... OMIM:613327
Beta-Thalassemia Intermedia
Leukocytosis, Erythroid hyperplasia, Persistence of hemoglobin F, Splenomegaly, Hepatosplenomegal... ORPHA:231222
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Portal fibrosis, Hepatic fibrosis, Hypokalemia, Increased serum... OMIM:619377
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hyperhomocystinemia, Hepatic steatosis, Hypermethioninemia, Pancreatitis OMIM:236200
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis OMIM:610198
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:819
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatosplenomegaly, Acute pancreatitis, Hypoal... OMIM:619487
Galloway-Mowat Syndrome 7
Hypercholesterolemia OMIM:618348
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hepatocellular carcinoma, Increased hepatic glycogen content, Hyperlipidemia, Hepat... ORPHA:79259
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612562
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure OMIM:611126
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hyperlipidemia ORPHA:254346
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperlipidemia, Increased circulating cortisol level, Paradoxical increased cortisol secretion on... ORPHA:189427
Fructose Intolerance, Hereditary
Hepatomegaly, Hypophosphatemia, Hyperbilirubinemia, Hyperuricosuria, Cirrhosis, Hepatic steatosis... OMIM:229600
Megalocornea-Mental Retardation Syndrome
Hypercholesterolemia OMIM:249310
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... ORPHA:811
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... ORPHA:231214
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... ORPHA:231226
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Steatorrhea, Pancreatic fibrosis OMIM:616263
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Seckel Syndrome 10
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:617253
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Decreased HDL cholesterol concentration, Pancreatitis, Splenomegaly, Hepatic steato... ORPHA:280365
Primary Pigmented Nodular Adrenocortical Disease
Hyperlipidemia, Increased circulating cortisol level, Paradoxical increased cortisol secretion on... ORPHA:189439
Alagille Syndrome 1
Hepatocellular carcinoma, Elevated hepatic transaminase, Cirrhosis, Hypercholesterolemia, Cholest... OMIM:118450
Isolated Thyroid-Stimulating Hormone Deficiency
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin level, Hypercholesterolemia, Neon... ORPHA:90674
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia ORPHA:90065
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatomegaly, Bile duct proliferation, Micronodular cirrhosis, ... OMIM:203700
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Hyperalaninemia, Macrovesicular hepatic steatosis, Decreased liver funct... OMIM:618329
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the intrahepatic bile duct, Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Hypercholesterolemia, Pancreatitis OMIM:619471
Gaisböck Syndrome
Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Cholecystitis, Incre... ORPHA:90041
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Increased mean corpuscular volume ORPHA:261250
D-Bifunctional Protein Deficiency
Hepatomegaly, Bile duct proliferation, Splenomegaly, Hepatic steatosis, Cholestasis, Increased ci... OMIM:261515
Neutral Lipid Storage Myopathy
Hepatomegaly, Abnormal circulating creatine kinase concentration, Hepatic steatosis, Chronic panc... ORPHA:98908
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Visceral Steatosis, Congenital
Hepatic steatosis, Hypocalcemia, Jaundice OMIM:228100
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Neoplasm of the pancreas ORPHA:2959
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis ORPHA:445038
Pearson Syndrome
Hepatomegaly, Hypokalemia, Macronodular cirrhosis, Hypophosphatemia, Splenomegaly, Abnormality of... ORPHA:699
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnormality of ... ORPHA:93111
Monosomy 13Q34
Hepatic steatosis, Infantile hypercalcemia ORPHA:96168
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Acute pancreatitis, Hypertriglyceridemi... OMIM:608594
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cholangitis, Decreased liver function, Cholestasis, Elevated he... OMIM:124000
Mitochondrial Trifunctional Protein Deficiency
Diffuse hepatic steatosis, Chronic hepatic failure, Cholestasis, Hypocalcemia ORPHA:746
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... OMIM:260400
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Hepatomegaly, Hypoalbuminemia, Splenomegaly OMIM:617303
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Acute pancreatitis, Hypertriglyceridemi... OMIM:269700
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:141750
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kin... OMIM:615356
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypokalemia, Hepatic steatosis, Elevated circulating alanine aminotransferase conce... OMIM:619573
Thymoma
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia ORPHA:99867
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Elevated circulating glutaric ac... ORPHA:66634
Cimdag Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis OMIM:619273
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Diffuse hepatic steatosis, Hepatomegaly, Decreased liver function ORPHA:436271
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Lipid accumulation in hepatocytes, Hyperammonemia, Hyperuricemia, Acute pancreatiti... ORPHA:20
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Hepatic fibrosis, Congenital hepatic fibrosis, Bile duct proliferation, Elevated ci... OMIM:619534
Rajab Interstitial Lung Disease With Brain Calcifications 1
Unconjugated hyperbilirubinemia, Bile duct proliferation, Hypocalcemia, Cirrhosis, Hepatic steato... OMIM:613658
Arima Syndrome
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis OMIM:243910
Aromatase Deficiency
Hepatic steatosis, Hyperlipidemia ORPHA:91
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hepatic steatosis, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Abnormal hemoglobin ORPHA:847
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Increased hepatocellular lipid droplets OMIM:220110
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Methylmalonic acidemia ORPHA:17
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Microvesicular hepatic steatosis, Decreased LDL cholesterol concentration, Micronod... ORPHA:404454
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Increased hepatic echogenicity, Elevated hepatic transaminase, Bile duct proliferat... OMIM:619525
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hyperaldosteronism, Hypoammonemia ORPHA:534
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia ORPHA:330015
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Hypercholesterolemia, Cholelithiasis ORPHA:273
Turner Syndrome
Hepatic fibrosis, Hyperlipidemia, Cholestatic liver disease, Cirrhosis, Hepatic steatosis, Elevat... ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies
Hepatic fibrosis, Hyperlipidemia, Cholestatic liver disease, Cirrhosis, Hepatic steatosis, Elevat... ORPHA:99413
Mosaic Monosomy X
Hepatic fibrosis, Hyperlipidemia, Cholestatic liver disease, Cirrhosis, Hepatic steatosis, Elevat... ORPHA:99228
Monosomy X
Hepatic fibrosis, Hyperlipidemia, Cholestatic liver disease, Cirrhosis, Hepatic steatosis, Elevat... ORPHA:99226
Lowe Oculocerebrorenal Syndrome
Hypercholesterolemia, Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fe... OMIM:309000
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated hemoglobin A1c, Hypertriglyceridemia, El... OMIM:619127
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Hepatic steatosis, Hyperbilirubinemia, Jaundice OMIM:619475
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Azotemia OMIM:619321
1P36 Deletion Syndrome
Abnormality of the liver, Hepatic steatosis, Abnormality of the spleen, Annular pancreas ORPHA:1606
Atypical Werner Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:79474
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia ORPHA:97214
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypomagnesemia, Hepatic steatosis, Hepatosplenomegaly, Cholestasis, Hypocalcemia, Portal hyperten... OMIM:619503
Wiedemann-Rautenstrauch Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:3455
Alström Syndrome
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Hepatitis, Pancreatitis, Splenomegaly, Cirrhosis,... ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dnajc7

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dnajc7.

No publications found that use IMPC mice or data for Dnajc7.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Dnajc7tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Dnajc7tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dnajc7tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter